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We hypothesize that Fabry disease - FD is associated with elevated vascular resistance induced by cerebral small-vessel disease, indicating increased distal resistance to blood flow. The findings of this study may be used as a precursor for neuroimaging manifestations related to stroke in FD patients.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Fabry disease |
| ||
| Healthy | age and sex matched |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography | Diagnostic Test | Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography will be performed in consecutive FD patients. All TCD and TCCD studies will be performed by stroke neurologists experienced in vascular sonography. |
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of elevated pulsatility index of FD patients | to assess the prevalence of elevated pulsatility index in FD patients at a single time point. | 2 years |
| Prevalence of elevated vasomotor reactivity in FD patients. | to assess the prevalence of elevated vasomotor reactivity in FD patients at a single time point. | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Association of pulsalitily index with leukoencephalopathy in FD patients. | To associate the pulsality index measured by TCD and TCCD with the presence of white matter lesions in brain MRI of FD patients. | 2 years |
| Association of vasomotor reactivity with leukoencephalopathy in FD patients. |
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Inclusion Criteria:
Fabry disease diagnosis, genetically confirmed Age> 16 years
Exclusion Criteria:
Insufficient temporal bone window MRI contra-indication Inability to cooperate for breath-holding test Detection of atrial fibrillation Refuse to sing informed consent
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Consecutive patients with genetically confirmed FD and healthy individuals will be prospectively enrolled as part of routine clinical examination.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece | Athens | 12462 | Greece |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| D056784 | Leukoencephalopathies |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D017585 | Ultrasonography, Doppler, Transcranial |
| D014463 | Ultrasonography |
| ID | Term |
|---|---|
| D004453 | Echoencephalography |
| D009485 | Neuroradiography |
| D059906 | Neuroimaging |
| D003952 | Diagnostic Imaging |
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|
To associate the vasomotor reactivity measured by TCD and TCCD with the presence of white matter lesions in brain MRI of FD patients. |
| 2 years |
| Τo compare the pulsatility index measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex. | For the secondary outcome, age and sex-matched healthy controls will be consecutively enrolled. After clinical evaluation, healthy controls will present no FD-associated manifestations, hence they will be FD negative. In addition, brain MRI will be performed and subjects with white matter disease and leukoencephalopathy will be excluded. Included controls will be leukoencephalopathy negative. TCD and TCCD evaluation will be performed in healthy controls, in order to measure pulsatility index and compare the results against FD patients. | 2 years |
| Τo compare vasomotor reactivity measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex. | For the secondary outcome, age and sex-matched healthy controls will be consecutively enrolled. After clinical evaluation, healthy controls will present no FD-associated manifestations, hence they will be FD negative. In addition, brain MRI will be performed and subjects with white matter disease and leukoencephalopathy will be excluded. Included controls will be leukoencephalopathy negative. TCD and TCCD evaluation will be performed in healthy controls, in order to measure vasomotor reactivity and compare the results against FD patients. | 2 years |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D019937 |
| Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011859 | Radiography |
| D018608 | Ultrasonography, Doppler |
| D003943 | Diagnostic Techniques, Neurological |
| D008919 | Investigative Techniques |